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dbSNP Short Genetic Variations

Examples: rs268, BRCA1 and more Advanced search

Welcome to the Reference SNP (rs) Report

All alleles are reported in the Forward orientation. Click on the Variant Details tab for details on Genomic Placement, Gene, and Amino Acid changes. HGVS names are in the HGVS tab.

Reference SNP (rs) Report

This page reports data for a single dbSNP Reference SNP variation (RefSNP or rs) from the new redesigned dbSNP build.
Top of the page reports a concise summary for the rs, with more specific details included in the corresponding tabs below.
All alleles are reported in the Forward orientation. Use the Genomic View to inspect the nucleotides flanking the variant, and its neighbors.
For more information see Help documentation.

rs34861443

Current Build 156

Released September 21, 2022

Organism
Homo sapiens
Position
chr2:219467189 (GRCh38.p14) Help

The anchor position for this RefSNP. Includes all nucleotides potentially affected by this change, thus it can differ from HGVS, which is right-shifted. See here for details.

Alleles
G>A / G>T
Variation Type
SNV Single Nucleotide Variation
Frequency
A=0.014315 (3789/264690, TOPMED)
A=0.013064 (3020/231174, GnomAD_exome)
A=0.014208 (1993/140272, GnomAD) (+ 16 more)
A=0.014104 (1542/109330, ExAC)
A=0.02204 (1868/84754, ALFA)
A=0.01858 (231/12430, GO-ESP)
A=0.0055 (35/6404, 1000G_30x)
A=0.0050 (25/5008, 1000G)
A=0.0087 (39/4480, Estonian)
A=0.0270 (104/3854, ALSPAC)
A=0.0237 (88/3708, TWINSUK)
A=0.017 (10/600, NorthernSweden)
A=0.009 (5/534, MGP)
A=0.003 (1/304, FINRISK)
A=0.05 (2/40, GENOME_DK)
G=0.5 (3/6, SGDP_PRJ)
A=0.5 (3/6, SGDP_PRJ)
G=0.5 (1/2, Siberian)
A=0.5 (1/2, Siberian)
Clinical Significance
Reported in ClinVar
Gene : Consequence
SPEG : Missense Variant
Publications
0 citations
Genomic View
See rs on genome

ALFA Allele Frequency
The ALFA project provide aggregate allele frequency from dbGaP. More information is available on the project page including descriptions, data access, and terms of use.

Release Version: 20230706150541
Population Group Sample Size Ref Allele Alt Allele
Total Global 100664 G=0.978870 A=0.021130
European Sub 83928 G=0.97656 A=0.02344
African Sub 8424 G=0.9935 A=0.0065
African Others Sub 304 G=0.997 A=0.003
African American Sub 8120 G=0.9933 A=0.0067
Asian Sub 192 G=1.000 A=0.000
East Asian Sub 110 G=1.000 A=0.000
Other Asian Sub 82 G=1.00 A=0.00
Latin American 1 Sub 146 G=0.986 A=0.014
Latin American 2 Sub 630 G=0.995 A=0.005
South Asian Sub 98 G=1.00 A=0.00
Other Sub 7246 G=0.9862 A=0.0138


Help

Frequency tab displays a table of the reference and alternate allele frequencies reported by various studies and populations. Table lines, where Population="Global" refer to the entire study population, whereas lines, where Group="Sub", refer to a study-specific population subgroupings (i.e. AFR, CAU, etc.), if available. Frequency for the alternate allele (Alt Allele) is a ratio of samples observed-to-total, where the numerator (observed samples) is the number of chromosomes in the study with the minor allele present (found in "Sample size", where Group="Sub"), and the denominator (total samples) is the total number of all chromosomes in the study for the variant (found in "Sample size", where Group="Study-wide" and Population="Global").

Download
Study Population Group Sample Size Ref Allele Alt Allele
TopMed Global Study-wide 264690 G=0.985685 A=0.014315
gnomAD - Exomes Global Study-wide 231174 G=0.986936 A=0.013064
gnomAD - Exomes European Sub 121424 G=0.979007 A=0.020993
gnomAD - Exomes Asian Sub 46194 G=0.99898 A=0.00102
gnomAD - Exomes American Sub 33836 G=0.99365 A=0.00635
gnomAD - Exomes African Sub 14998 G=0.99620 A=0.00380
gnomAD - Exomes Ashkenazi Jewish Sub 8992 G=0.9914 A=0.0086
gnomAD - Exomes Other Sub 5730 G=0.9869 A=0.0131
gnomAD - Genomes Global Study-wide 140272 G=0.985792 A=0.014208
gnomAD - Genomes European Sub 75958 G=0.97857 A=0.02143
gnomAD - Genomes African Sub 42046 G=0.99515 A=0.00485
gnomAD - Genomes American Sub 13658 G=0.99209 A=0.00791
gnomAD - Genomes Ashkenazi Jewish Sub 3324 G=0.9904 A=0.0096
gnomAD - Genomes East Asian Sub 3134 G=1.0000 A=0.0000
gnomAD - Genomes Other Sub 2152 G=0.9902 A=0.0098
ExAC Global Study-wide 109330 G=0.985896 A=0.014104
ExAC Europe Sub 68616 G=0.97961 A=0.02039
ExAC Asian Sub 19652 G=0.99878 A=0.00122
ExAC American Sub 11448 G=0.99450 A=0.00550
ExAC African Sub 8810 G=0.9948 A=0.0052
ExAC Other Sub 804 G=0.988 A=0.012
Allele Frequency Aggregator Total Global 84754 G=0.97796 A=0.02204
Allele Frequency Aggregator European Sub 74138 G=0.97629 A=0.02371
Allele Frequency Aggregator Other Sub 5870 G=0.9864 A=0.0136
Allele Frequency Aggregator African Sub 3680 G=0.9932 A=0.0068
Allele Frequency Aggregator Latin American 2 Sub 630 G=0.995 A=0.005
Allele Frequency Aggregator Asian Sub 192 G=1.000 A=0.000
Allele Frequency Aggregator Latin American 1 Sub 146 G=0.986 A=0.014
Allele Frequency Aggregator South Asian Sub 98 G=1.00 A=0.00
GO Exome Sequencing Project Global Study-wide 12430 G=0.98142 A=0.01858
GO Exome Sequencing Project European American Sub 8346 G=0.9757 A=0.0243
GO Exome Sequencing Project African American Sub 4084 G=0.9931 A=0.0069
1000Genomes_30x Global Study-wide 6404 G=0.9945 A=0.0055
1000Genomes_30x African Sub 1786 G=0.9994 A=0.0006
1000Genomes_30x Europe Sub 1266 G=0.9771 A=0.0229
1000Genomes_30x South Asian Sub 1202 G=1.0000 A=0.0000
1000Genomes_30x East Asian Sub 1170 G=1.0000 A=0.0000
1000Genomes_30x American Sub 980 G=0.995 A=0.005
1000Genomes Global Study-wide 5008 G=0.9950 A=0.0050
1000Genomes African Sub 1322 G=0.9992 A=0.0008
1000Genomes East Asian Sub 1008 G=1.0000 A=0.0000
1000Genomes Europe Sub 1006 G=0.9791 A=0.0209
1000Genomes South Asian Sub 978 G=1.000 A=0.000
1000Genomes American Sub 694 G=0.996 A=0.004
Genetic variation in the Estonian population Estonian Study-wide 4480 G=0.9913 A=0.0087
The Avon Longitudinal Study of Parents and Children PARENT AND CHILD COHORT Study-wide 3854 G=0.9730 A=0.0270
UK 10K study - Twins TWIN COHORT Study-wide 3708 G=0.9763 A=0.0237
Northern Sweden ACPOP Study-wide 600 G=0.983 A=0.017
Medical Genome Project healthy controls from Spanish population Spanish controls Study-wide 534 G=0.991 A=0.009
FINRISK Finnish from FINRISK project Study-wide 304 G=0.997 A=0.003
The Danish reference pan genome Danish Study-wide 40 G=0.95 A=0.05
SGDP_PRJ Global Study-wide 6 G=0.5 A=0.5
Siberian Global Study-wide 2 G=0.5 A=0.5
Help

Variant Details tab shows known variant placements on genomic sequences: chromosomes (NC_), RefSeqGene, pseudogenes or genomic regions (NG_), and in a separate table: on transcripts (NM_) and protein sequences (NP_). The corresponding transcript and protein locations are listed in adjacent lines, along with molecular consequences from Sequence Ontology. When no protein placement is available, only the transcript is listed. Column "Codon[Amino acid]" shows the actual base change in the format of "Reference > Alternate" allele, including the nucleotide codon change in transcripts, and the amino acid change in proteins, respectively, allowing for known ribosomal slippage sites. To view nucleotides adjacent to the variant use the Genomic View at the bottom of the page - zoom into the sequence until the nucleotides around the variant become visible.

Genomic Placements
Sequence name Change
GRCh38.p14 chr 2 NC_000002.12:g.219467189G>A
GRCh38.p14 chr 2 NC_000002.12:g.219467189G>T
GRCh37.p13 chr 2 NC_000002.11:g.220331911G>A
GRCh37.p13 chr 2 NC_000002.11:g.220331911G>T
SPEG RefSeqGene NG_051022.1:g.37975G>A
SPEG RefSeqGene NG_051022.1:g.37975G>T
Gene: SPEG, striated muscle enriched protein kinase (plus strand)
Molecule type Change Amino acid[Codon] SO Term
SPEG transcript variant 4 NM_001173476.2:c. N/A Genic Downstream Transcript Variant
SPEG transcript variant 1 NM_005876.5:c.2897G>A R [CGG] > Q [CAG] Coding Sequence Variant
striated muscle preferentially expressed protein kinase isoform 1 NP_005867.3:p.Arg966Gln R (Arg) > Q (Gln) Missense Variant
SPEG transcript variant 1 NM_005876.5:c.2897G>T R [CGG] > L [CTG] Coding Sequence Variant
striated muscle preferentially expressed protein kinase isoform 1 NP_005867.3:p.Arg966Leu R (Arg) > L (Leu) Missense Variant
SPEG transcript variant X20 XM_017003161.3:c.2912-29G…

XM_017003161.3:c.2912-29G>A

 		N/A Intron Variant
SPEG transcript variant X21 XM_017003162.3:c. N/A Genic Downstream Transcript Variant
SPEG transcript variant X23 XM_024452526.2:c. N/A Genic Downstream Transcript Variant
SPEG transcript variant X22 XM_047442902.1:c. N/A Genic Downstream Transcript Variant
SPEG transcript variant X24 XM_047442903.1:c. N/A Genic Downstream Transcript Variant
SPEG transcript variant X25 XM_047442904.1:c. N/A Genic Downstream Transcript Variant
SPEG transcript variant X26 XM_047442905.1:c. N/A Genic Downstream Transcript Variant
SPEG transcript variant X27 XM_047442906.1:c. N/A Genic Downstream Transcript Variant
SPEG transcript variant X28 XM_047442907.1:c. N/A Genic Downstream Transcript Variant
SPEG transcript variant X29 XM_047442908.1:c. N/A Genic Downstream Transcript Variant
SPEG transcript variant X30 XM_047442909.1:c. N/A Genic Downstream Transcript Variant
SPEG transcript variant X31 XM_047442910.1:c. N/A Genic Downstream Transcript Variant
SPEG transcript variant X32 XM_047442911.1:c. N/A Genic Downstream Transcript Variant
SPEG transcript variant X33 XM_047442912.1:c. N/A Genic Downstream Transcript Variant
SPEG transcript variant X34 XM_047442914.1:c. N/A Genic Downstream Transcript Variant
SPEG transcript variant X35 XM_047442917.1:c. N/A Genic Downstream Transcript Variant
SPEG transcript variant X36 XM_047442918.1:c. N/A Genic Downstream Transcript Variant
SPEG transcript variant X37 XM_047442919.1:c. N/A Genic Downstream Transcript Variant
SPEG transcript variant X38 XM_047442920.1:c. N/A Genic Downstream Transcript Variant
SPEG transcript variant X39 XM_047442921.1:c. N/A Genic Downstream Transcript Variant
SPEG transcript variant X40 XM_047442922.1:c. N/A Genic Downstream Transcript Variant
SPEG transcript variant X41 XM_047442923.1:c. N/A Genic Downstream Transcript Variant
SPEG transcript variant X16 XM_005246240.2:c.350G>A R [CGG] > Q [CAG] Coding Sequence Variant
striated muscle preferentially expressed protein kinase isoform X14 XP_005246297.1:p.Arg117Gln R (Arg) > Q (Gln) Missense Variant
SPEG transcript variant X16 XM_005246240.2:c.350G>T R [CGG] > L [CTG] Coding Sequence Variant
striated muscle preferentially expressed protein kinase isoform X14 XP_005246297.1:p.Arg117Leu R (Arg) > L (Leu) Missense Variant
SPEG transcript variant X1 XM_011510479.3:c.2927G>A R [CGG] > Q [CAG] Coding Sequence Variant
striated muscle preferentially expressed protein kinase isoform X1 XP_011508781.1:p.Arg976Gln R (Arg) > Q (Gln) Missense Variant
SPEG transcript variant X1 XM_011510479.3:c.2927G>T R [CGG] > L [CTG] Coding Sequence Variant
striated muscle preferentially expressed protein kinase isoform X1 XP_011508781.1:p.Arg976Leu R (Arg) > L (Leu) Missense Variant
SPEG transcript variant X2 XM_047442891.1:c.2927G>A R [CGG] > Q [CAG] Coding Sequence Variant
striated muscle preferentially expressed protein kinase isoform X2 XP_047298847.1:p.Arg976Gln R (Arg) > Q (Gln) Missense Variant
SPEG transcript variant X2 XM_047442891.1:c.2927G>T R [CGG] > L [CTG] Coding Sequence Variant
striated muscle preferentially expressed protein kinase isoform X2 XP_047298847.1:p.Arg976Leu R (Arg) > L (Leu) Missense Variant
SPEG transcript variant X3 XM_047442892.1:c.2750G>A R [CGG] > Q [CAG] Coding Sequence Variant
striated muscle preferentially expressed protein kinase isoform X3 XP_047298848.1:p.Arg917Gln R (Arg) > Q (Gln) Missense Variant
SPEG transcript variant X3 XM_047442892.1:c.2750G>T R [CGG] > L [CTG] Coding Sequence Variant
striated muscle preferentially expressed protein kinase isoform X3 XP_047298848.1:p.Arg917Leu R (Arg) > L (Leu) Missense Variant
SPEG transcript variant X4 XM_047442893.1:c.2744G>A R [CGG] > Q [CAG] Coding Sequence Variant
striated muscle preferentially expressed protein kinase isoform X4 XP_047298849.1:p.Arg915Gln R (Arg) > Q (Gln) Missense Variant
SPEG transcript variant X4 XM_047442893.1:c.2744G>T R [CGG] > L [CTG] Coding Sequence Variant
striated muscle preferentially expressed protein kinase isoform X4 XP_047298849.1:p.Arg915Leu R (Arg) > L (Leu) Missense Variant
SPEG transcript variant X5 XM_047442894.1:c.2720G>A R [CGG] > Q [CAG] Coding Sequence Variant
striated muscle preferentially expressed protein kinase isoform X5 XP_047298850.1:p.Arg907Gln R (Arg) > Q (Gln) Missense Variant
SPEG transcript variant X5 XM_047442894.1:c.2720G>T R [CGG] > L [CTG] Coding Sequence Variant
striated muscle preferentially expressed protein kinase isoform X5 XP_047298850.1:p.Arg907Leu R (Arg) > L (Leu) Missense Variant
SPEG transcript variant X6 XM_005246237.3:c.2615G>A R [CGG] > Q [CAG] Coding Sequence Variant
striated muscle preferentially expressed protein kinase isoform X6 XP_005246294.1:p.Arg872Gln R (Arg) > Q (Gln) Missense Variant
SPEG transcript variant X6 XM_005246237.3:c.2615G>T R [CGG] > L [CTG] Coding Sequence Variant
striated muscle preferentially expressed protein kinase isoform X6 XP_005246294.1:p.Arg872Leu R (Arg) > L (Leu) Missense Variant
SPEG transcript variant X7 XM_006712189.4:c.2585G>A R [CGG] > Q [CAG] Coding Sequence Variant
striated muscle preferentially expressed protein kinase isoform X7 XP_006712252.1:p.Arg862Gln R (Arg) > Q (Gln) Missense Variant
SPEG transcript variant X7 XM_006712189.4:c.2585G>T R [CGG] > L [CTG] Coding Sequence Variant
striated muscle preferentially expressed protein kinase isoform X7 XP_006712252.1:p.Arg862Leu R (Arg) > L (Leu) Missense Variant
SPEG transcript variant X8 XM_047442895.1:c.2537G>A R [CGG] > Q [CAG] Coding Sequence Variant
striated muscle preferentially expressed protein kinase isoform X8 XP_047298851.1:p.Arg846Gln R (Arg) > Q (Gln) Missense Variant
SPEG transcript variant X8 XM_047442895.1:c.2537G>T R [CGG] > L [CTG] Coding Sequence Variant
striated muscle preferentially expressed protein kinase isoform X8 XP_047298851.1:p.Arg846Leu R (Arg) > L (Leu) Missense Variant
SPEG transcript variant X9 XM_047442896.1:c.2438G>A R [CGG] > Q [CAG] Coding Sequence Variant
striated muscle preferentially expressed protein kinase isoform X9 XP_047298852.1:p.Arg813Gln R (Arg) > Q (Gln) Missense Variant
SPEG transcript variant X9 XM_047442896.1:c.2438G>T R [CGG] > L [CTG] Coding Sequence Variant
striated muscle preferentially expressed protein kinase isoform X9 XP_047298852.1:p.Arg813Leu R (Arg) > L (Leu) Missense Variant
SPEG transcript variant X10 XM_047442897.1:c.2408G>A R [CGG] > Q [CAG] Coding Sequence Variant
striated muscle preferentially expressed protein kinase isoform X10 XP_047298853.1:p.Arg803Gln R (Arg) > Q (Gln) Missense Variant
SPEG transcript variant X10 XM_047442897.1:c.2408G>T R [CGG] > L [CTG] Coding Sequence Variant
striated muscle preferentially expressed protein kinase isoform X10 XP_047298853.1:p.Arg803Leu R (Arg) > L (Leu) Missense Variant
SPEG transcript variant X11 XM_047442898.1:c.521G>A R [CGG] > Q [CAG] Coding Sequence Variant
striated muscle preferentially expressed protein kinase isoform X11 XP_047298854.1:p.Arg174Gln R (Arg) > Q (Gln) Missense Variant
SPEG transcript variant X11 XM_047442898.1:c.521G>T R [CGG] > L [CTG] Coding Sequence Variant
striated muscle preferentially expressed protein kinase isoform X11 XP_047298854.1:p.Arg174Leu R (Arg) > L (Leu) Missense Variant
SPEG transcript variant X12 XM_005246239.3:c.521G>A R [CGG] > Q [CAG] Coding Sequence Variant
striated muscle preferentially expressed protein kinase isoform X11 XP_005246296.1:p.Arg174Gln R (Arg) > Q (Gln) Missense Variant
SPEG transcript variant X12 XM_005246239.3:c.521G>T R [CGG] > L [CTG] Coding Sequence Variant
striated muscle preferentially expressed protein kinase isoform X11 XP_005246296.1:p.Arg174Leu R (Arg) > L (Leu) Missense Variant
SPEG transcript variant X13 XM_017003159.3:c.2927G>A R [CGG] > Q [CAG] Coding Sequence Variant
striated muscle preferentially expressed protein kinase isoform X12 XP_016858648.2:p.Arg976Gln R (Arg) > Q (Gln) Missense Variant
SPEG transcript variant X13 XM_017003159.3:c.2927G>T R [CGG] > L [CTG] Coding Sequence Variant
striated muscle preferentially expressed protein kinase isoform X12 XP_016858648.2:p.Arg976Leu R (Arg) > L (Leu) Missense Variant
SPEG transcript variant X14 XM_047442900.1:c.521G>A R [CGG] > Q [CAG] Coding Sequence Variant
striated muscle preferentially expressed protein kinase isoform X11 XP_047298856.1:p.Arg174Gln R (Arg) > Q (Gln) Missense Variant
SPEG transcript variant X14 XM_047442900.1:c.521G>T R [CGG] > L [CTG] Coding Sequence Variant
striated muscle preferentially expressed protein kinase isoform X11 XP_047298856.1:p.Arg174Leu R (Arg) > L (Leu) Missense Variant
SPEG transcript variant X15 XM_005246242.5:c.536G>A R [CGG] > Q [CAG] Coding Sequence Variant
striated muscle preferentially expressed protein kinase isoform X13 XP_005246299.1:p.Arg179Gln R (Arg) > Q (Gln) Missense Variant
SPEG transcript variant X15 XM_005246242.5:c.536G>T R [CGG] > L [CTG] Coding Sequence Variant
striated muscle preferentially expressed protein kinase isoform X13 XP_005246299.1:p.Arg179Leu R (Arg) > L (Leu) Missense Variant
SPEG transcript variant X17 XM_005246241.2:c.350G>A R [CGG] > Q [CAG] Coding Sequence Variant
striated muscle preferentially expressed protein kinase isoform X14 XP_005246298.1:p.Arg117Gln R (Arg) > Q (Gln) Missense Variant
SPEG transcript variant X17 XM_005246241.2:c.350G>T R [CGG] > L [CTG] Coding Sequence Variant
striated muscle preferentially expressed protein kinase isoform X14 XP_005246298.1:p.Arg117Leu R (Arg) > L (Leu) Missense Variant
SPEG transcript variant X18 XM_006712193.4:c.350G>A R [CGG] > Q [CAG] Coding Sequence Variant
striated muscle preferentially expressed protein kinase isoform X14 XP_006712256.1:p.Arg117Gln R (Arg) > Q (Gln) Missense Variant
SPEG transcript variant X18 XM_006712193.4:c.350G>T R [CGG] > L [CTG] Coding Sequence Variant
striated muscle preferentially expressed protein kinase isoform X14 XP_006712256.1:p.Arg117Leu R (Arg) > L (Leu) Missense Variant
SPEG transcript variant X19 XM_047442901.1:c.2927G>A R [CGG] > Q [CAG] Coding Sequence Variant
striated muscle preferentially expressed protein kinase isoform X15 XP_047298857.1:p.Arg976Gln R (Arg) > Q (Gln) Missense Variant
SPEG transcript variant X19 XM_047442901.1:c.2927G>T R [CGG] > L [CTG] Coding Sequence Variant
striated muscle preferentially expressed protein kinase isoform X15 XP_047298857.1:p.Arg976Leu R (Arg) > L (Leu) Missense Variant
Help

Clinical Significance tab shows a list of clinical significance entries from ClinVar associated with the variation, per allele. Click on the RCV accession (i.e. RCV000001615.2) or Allele ID (i.e. 12274) to access full ClinVar report.

Allele: A (allele ID: 1630492 )
ClinVar Accession Disease Names Clinical Significance
RCV002129573.3 not provided Benign
Help

Aliases tab displays HGVS names representing the variant placements and allele changes on genomic, transcript and protein sequences, per allele. HGVS name is an expression for reporting sequence accession and version, sequence type, position, and allele change. The column "Note" can have two values: "diff" means that there is a difference between the reference allele (variation interval) at the placement reported in HGVS name and the reference alleles reported in other HGVS names, and "rev" means that the sequence of this variation interval at the placement reported in HGVS name is in reverse orientation to the sequence(s) of this variation in other HGVS names not labeled as "rev".

Placement G= A T
GRCh38.p14 chr 2 NC_000002.12:g.219467189= NC_000002.12:g.219467189G>A NC_000002.12:g.219467189G>T
GRCh37.p13 chr 2 NC_000002.11:g.220331911= NC_000002.11:g.220331911G>A NC_000002.11:g.220331911G>T
SPEG RefSeqGene NG_051022.1:g.37975= NG_051022.1:g.37975G>A NG_051022.1:g.37975G>T
SPEG transcript variant 1 NM_005876.5:c.2897= NM_005876.5:c.2897G>A NM_005876.5:c.2897G>T
SPEG transcript variant 1 NM_005876.4:c.2897= NM_005876.4:c.2897G>A NM_005876.4:c.2897G>T
SPEG transcript variant X15 XM_005246242.5:c.536= XM_005246242.5:c.536G>A XM_005246242.5:c.536G>T
SPEG transcript variant X9 XM_005246242.4:c.536= XM_005246242.4:c.536G>A XM_005246242.4:c.536G>T
SPEG transcript variant X11 XM_005246242.3:c.536= XM_005246242.3:c.536G>A XM_005246242.3:c.536G>T
SPEG transcript variant X8 XM_005246242.2:c.536= XM_005246242.2:c.536G>A XM_005246242.2:c.536G>T
SPEG transcript variant X8 XM_005246242.1:c.536= XM_005246242.1:c.536G>A XM_005246242.1:c.536G>T
SPEG transcript variant X7 XM_006712189.4:c.2585= XM_006712189.4:c.2585G>A XM_006712189.4:c.2585G>T
SPEG transcript variant X6 XM_006712189.3:c.2585= XM_006712189.3:c.2585G>A XM_006712189.3:c.2585G>T
SPEG transcript variant X7 XM_006712189.2:c.2585= XM_006712189.2:c.2585G>A XM_006712189.2:c.2585G>T
SPEG transcript variant X11 XM_006712189.1:c.2585= XM_006712189.1:c.2585G>A XM_006712189.1:c.2585G>T
SPEG transcript variant X18 XM_006712193.4:c.350= XM_006712193.4:c.350G>A XM_006712193.4:c.350G>T
SPEG transcript variant X12 XM_006712193.3:c.350= XM_006712193.3:c.350G>A XM_006712193.3:c.350G>T
SPEG transcript variant X14 XM_006712193.2:c.350= XM_006712193.2:c.350G>A XM_006712193.2:c.350G>T
SPEG transcript variant X15 XM_006712193.1:c.350= XM_006712193.1:c.350G>A XM_006712193.1:c.350G>T
SPEG transcript variant X1 XM_011510479.3:c.2927= XM_011510479.3:c.2927G>A XM_011510479.3:c.2927G>T
SPEG transcript variant X3 XM_011510479.2:c.2927= XM_011510479.2:c.2927G>A XM_011510479.2:c.2927G>T
SPEG transcript variant X1 XM_011510479.1:c.2927= XM_011510479.1:c.2927G>A XM_011510479.1:c.2927G>T
SPEG transcript variant X6 XM_005246237.3:c.2615= XM_005246237.3:c.2615G>A XM_005246237.3:c.2615G>T
SPEG transcript variant X5 XM_005246237.2:c.2615= XM_005246237.2:c.2615G>A XM_005246237.2:c.2615G>T
SPEG transcript variant X3 XM_005246237.1:c.2615= XM_005246237.1:c.2615G>A XM_005246237.1:c.2615G>T
SPEG transcript variant X12 XM_005246239.3:c.521= XM_005246239.3:c.521G>A XM_005246239.3:c.521G>T
SPEG transcript variant X7 XM_005246239.2:c.521= XM_005246239.2:c.521G>A XM_005246239.2:c.521G>T
SPEG transcript variant X5 XM_005246239.1:c.521= XM_005246239.1:c.521G>A XM_005246239.1:c.521G>T
SPEG transcript variant X13 XM_017003159.3:c.2927= XM_017003159.3:c.2927G>A XM_017003159.3:c.2927G>T
SPEG transcript variant X8 XM_017003159.2:c.521= XM_017003159.2:c.521G>A XM_017003159.2:c.521G>T
SPEG transcript variant X8 XM_017003159.1:c.521= XM_017003159.1:c.521G>A XM_017003159.1:c.521G>T
SPEG transcript variant X17 XM_005246241.2:c.350= XM_005246241.2:c.350G>A XM_005246241.2:c.350G>T
SPEG transcript variant X11 XM_005246241.1:c.350= XM_005246241.1:c.350G>A XM_005246241.1:c.350G>T
SPEG transcript variant X16 XM_005246240.2:c.350= XM_005246240.2:c.350G>A XM_005246240.2:c.350G>T
SPEG transcript variant X6 XM_005246240.1:c.350= XM_005246240.1:c.350G>A XM_005246240.1:c.350G>T
SPEG transcript variant X2 XM_047442891.1:c.2927= XM_047442891.1:c.2927G>A XM_047442891.1:c.2927G>T
SPEG transcript variant X3 XM_047442892.1:c.2750= XM_047442892.1:c.2750G>A XM_047442892.1:c.2750G>T
SPEG transcript variant X4 XM_047442893.1:c.2744= XM_047442893.1:c.2744G>A XM_047442893.1:c.2744G>T
SPEG transcript variant X5 XM_047442894.1:c.2720= XM_047442894.1:c.2720G>A XM_047442894.1:c.2720G>T
SPEG transcript variant X8 XM_047442895.1:c.2537= XM_047442895.1:c.2537G>A XM_047442895.1:c.2537G>T
SPEG transcript variant X11 XM_047442898.1:c.521= XM_047442898.1:c.521G>A XM_047442898.1:c.521G>T
SPEG transcript variant X9 XM_047442896.1:c.2438= XM_047442896.1:c.2438G>A XM_047442896.1:c.2438G>T
SPEG transcript variant X10 XM_047442897.1:c.2408= XM_047442897.1:c.2408G>A XM_047442897.1:c.2408G>T
SPEG transcript variant X14 XM_047442900.1:c.521= XM_047442900.1:c.521G>A XM_047442900.1:c.521G>T
SPEG transcript variant X19 XM_047442901.1:c.2927= XM_047442901.1:c.2927G>A XM_047442901.1:c.2927G>T
striated muscle preferentially expressed protein kinase isoform 1 NP_005867.3:p.Arg966= NP_005867.3:p.Arg966Gln NP_005867.3:p.Arg966Leu
striated muscle preferentially expressed protein kinase isoform X13 XP_005246299.1:p.Arg179= XP_005246299.1:p.Arg179Gln XP_005246299.1:p.Arg179Leu
striated muscle preferentially expressed protein kinase isoform X7 XP_006712252.1:p.Arg862= XP_006712252.1:p.Arg862Gln XP_006712252.1:p.Arg862Leu
striated muscle preferentially expressed protein kinase isoform X14 XP_006712256.1:p.Arg117= XP_006712256.1:p.Arg117Gln XP_006712256.1:p.Arg117Leu
striated muscle preferentially expressed protein kinase isoform X1 XP_011508781.1:p.Arg976= XP_011508781.1:p.Arg976Gln XP_011508781.1:p.Arg976Leu
striated muscle preferentially expressed protein kinase isoform X6 XP_005246294.1:p.Arg872= XP_005246294.1:p.Arg872Gln XP_005246294.1:p.Arg872Leu
striated muscle preferentially expressed protein kinase isoform X11 XP_005246296.1:p.Arg174= XP_005246296.1:p.Arg174Gln XP_005246296.1:p.Arg174Leu
striated muscle preferentially expressed protein kinase isoform X12 XP_016858648.2:p.Arg976= XP_016858648.2:p.Arg976Gln XP_016858648.2:p.Arg976Leu
striated muscle preferentially expressed protein kinase isoform X14 XP_005246298.1:p.Arg117= XP_005246298.1:p.Arg117Gln XP_005246298.1:p.Arg117Leu
striated muscle preferentially expressed protein kinase isoform X14 XP_005246297.1:p.Arg117= XP_005246297.1:p.Arg117Gln XP_005246297.1:p.Arg117Leu
striated muscle preferentially expressed protein kinase isoform X2 XP_047298847.1:p.Arg976= XP_047298847.1:p.Arg976Gln XP_047298847.1:p.Arg976Leu
striated muscle preferentially expressed protein kinase isoform X3 XP_047298848.1:p.Arg917= XP_047298848.1:p.Arg917Gln XP_047298848.1:p.Arg917Leu
striated muscle preferentially expressed protein kinase isoform X4 XP_047298849.1:p.Arg915= XP_047298849.1:p.Arg915Gln XP_047298849.1:p.Arg915Leu
striated muscle preferentially expressed protein kinase isoform X5 XP_047298850.1:p.Arg907= XP_047298850.1:p.Arg907Gln XP_047298850.1:p.Arg907Leu
striated muscle preferentially expressed protein kinase isoform X8 XP_047298851.1:p.Arg846= XP_047298851.1:p.Arg846Gln XP_047298851.1:p.Arg846Leu
striated muscle preferentially expressed protein kinase isoform X11 XP_047298854.1:p.Arg174= XP_047298854.1:p.Arg174Gln XP_047298854.1:p.Arg174Leu
striated muscle preferentially expressed protein kinase isoform X9 XP_047298852.1:p.Arg813= XP_047298852.1:p.Arg813Gln XP_047298852.1:p.Arg813Leu
striated muscle preferentially expressed protein kinase isoform X10 XP_047298853.1:p.Arg803= XP_047298853.1:p.Arg803Gln XP_047298853.1:p.Arg803Leu
striated muscle preferentially expressed protein kinase isoform X11 XP_047298856.1:p.Arg174= XP_047298856.1:p.Arg174Gln XP_047298856.1:p.Arg174Leu
striated muscle preferentially expressed protein kinase isoform X15 XP_047298857.1:p.Arg976= XP_047298857.1:p.Arg976Gln XP_047298857.1:p.Arg976Leu
SPEG transcript variant X20 XM_017003161.3:c.2912-29= XM_017003161.3:c.2912-29G>A XM_017003161.3:c.2912-29G>T
Help

Submissions tab displays variations originally submitted to dbSNP, now supporting this RefSNP cluster (rs). We display Submitter handle, Submission identifier, Date and Build number, when the submission appeared for the first time. Direct submissions to dbSNP have Submission ID in the form of an ss-prefixed number (ss#). Other supporting variations are listed in the table without ss#.

61 SubSNP, 17 Frequency, 1 ClinVar submissions
No Submitter Submission ID Date (Build)
1 CANCER-GENOME ss48533805 Mar 14, 2006 (126)
2 HUMANGENOME_JCVI ss96473470 Feb 06, 2009 (130)
3 ENSEMBL ss135964352 Dec 01, 2009 (131)
4 1000GENOMES ss330323136 May 09, 2011 (134)
5 1000GENOMES ss489853568 May 04, 2012 (137)
6 EXOME_CHIP ss491331825 May 04, 2012 (137)
7 CLINSEQ_SNP ss491800718 May 04, 2012 (137)
8 NHLBI-ESP ss712476121 Apr 25, 2013 (138)
9 ILLUMINA ss783492635 Sep 08, 2015 (146)
10 EVA-GONL ss977979776 Aug 21, 2014 (142)
11 JMKIDD_LAB ss1067445606 Aug 21, 2014 (142)
12 1000GENOMES ss1301722535 Aug 21, 2014 (142)
13 EVA_GENOME_DK ss1579330202 Apr 01, 2015 (144)
14 EVA_FINRISK ss1584024088 Apr 01, 2015 (144)
15 EVA_DECODE ss1587435430 Apr 01, 2015 (144)
16 EVA_UK10K_ALSPAC ss1605834663 Apr 01, 2015 (144)
17 EVA_UK10K_TWINSUK ss1648828696 Apr 01, 2015 (144)
18 EVA_EXAC ss1686749511 Apr 01, 2015 (144)
19 EVA_MGP ss1710997674 Apr 01, 2015 (144)
20 ILLUMINA ss1752339968 Sep 08, 2015 (146)
21 ILLUMINA ss1917760305 Feb 12, 2016 (147)
22 ILLUMINA ss1946067191 Feb 12, 2016 (147)
23 ILLUMINA ss1958507299 Feb 12, 2016 (147)
24 JJLAB ss2021160405 Sep 14, 2016 (149)
25 USC_VALOUEV ss2149222995 Dec 20, 2016 (150)
26 HUMAN_LONGEVITY ss2239313712 Dec 20, 2016 (150)
27 GNOMAD ss2733354431 Nov 08, 2017 (151)
28 GNOMAD ss2746886496 Nov 08, 2017 (151)
29 GNOMAD ss2786551806 Nov 08, 2017 (151)
30 AFFY ss2985200740 Nov 08, 2017 (151)
31 SWEGEN ss2991389020 Nov 08, 2017 (151)
32 ILLUMINA ss3022071781 Nov 08, 2017 (151)
33 CSHL ss3344749463 Nov 08, 2017 (151)
34 ILLUMINA ss3634813288 Oct 11, 2018 (152)
35 ILLUMINA ss3640520587 Oct 11, 2018 (152)
36 ILLUMINA ss3644769857 Oct 11, 2018 (152)
37 URBANLAB ss3647278695 Oct 11, 2018 (152)
38 ILLUMINA ss3652523011 Oct 11, 2018 (152)
39 ILLUMINA ss3653968517 Oct 11, 2018 (152)
40 EGCUT_WGS ss3659284322 Jul 13, 2019 (153)
41 EVA_DECODE ss3706060616 Jul 13, 2019 (153)
42 ACPOP ss3729388532 Jul 13, 2019 (153)
43 ILLUMINA ss3744487610 Jul 13, 2019 (153)
44 ILLUMINA ss3745113117 Jul 13, 2019 (153)
45 ILLUMINA ss3772609603 Jul 13, 2019 (153)
46 EVA ss3823858422 Apr 25, 2020 (154)
47 EVA ss3825619847 Apr 25, 2020 (154)
48 SGDP_PRJ ss3854634137 Apr 25, 2020 (154)
49 EVA ss3986216152 Apr 26, 2021 (155)
50 TOPMED ss4545329354 Apr 26, 2021 (155)
51 EVA ss5236978452 Apr 26, 2021 (155)
52 1000G_HIGH_COVERAGE ss5252100279 Oct 13, 2022 (156)
53 EVA ss5336162486 Oct 13, 2022 (156)
54 HUGCELL_USP ss5451704624 Oct 13, 2022 (156)
55 1000G_HIGH_COVERAGE ss5529482372 Oct 13, 2022 (156)
56 SANFORD_IMAGENETICS ss5630990534 Oct 13, 2022 (156)
57 EVA ss5821617899 Oct 13, 2022 (156)
58 EVA ss5847903888 Oct 13, 2022 (156)
59 EVA ss5848535861 Oct 13, 2022 (156)
60 EVA ss5934785136 Oct 13, 2022 (156)
61 EVA ss5957248106 Oct 13, 2022 (156)
62 1000Genomes NC_000002.11 - 220331911 Oct 11, 2018 (152)
63 1000Genomes_30x NC_000002.12 - 219467189 Oct 13, 2022 (156)
64 The Avon Longitudinal Study of Parents and Children NC_000002.11 - 220331911 Oct 11, 2018 (152)
65 Genetic variation in the Estonian population NC_000002.11 - 220331911 Oct 11, 2018 (152)
66 ExAC NC_000002.11 - 220331911 Oct 11, 2018 (152)
67 FINRISK NC_000002.11 - 220331911 Apr 25, 2020 (154)
68 The Danish reference pan genome NC_000002.11 - 220331911 Apr 25, 2020 (154)
69 gnomAD - Genomes NC_000002.12 - 219467189 Apr 26, 2021 (155)
70 gnomAD - Exomes NC_000002.11 - 220331911 Jul 13, 2019 (153)
71 GO Exome Sequencing Project NC_000002.11 - 220331911 Oct 11, 2018 (152)
72 Medical Genome Project healthy controls from Spanish population NC_000002.11 - 220331911 Apr 25, 2020 (154)
73 Northern Sweden NC_000002.11 - 220331911 Jul 13, 2019 (153)
74 SGDP_PRJ NC_000002.11 - 220331911 Apr 25, 2020 (154)
75 Siberian NC_000002.11 - 220331911 Apr 25, 2020 (154)
76 TopMed NC_000002.12 - 219467189 Apr 26, 2021 (155)
77 UK 10K study - Twins NC_000002.11 - 220331911 Oct 11, 2018 (152)
78 ALFA NC_000002.12 - 219467189 Apr 26, 2021 (155)
79 ClinVar RCV002129573.3 Oct 13, 2022 (156)
Help

History tab displays RefSNPs (Associated ID) from previous builds (Build) that now support the current RefSNP, and the dates, when the history was updated for each Associated ID (History Updated).

Added to this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Source RSIDs
ss491800718, ss1587435430 NC_000002.10:220040154:G:A NC_000002.12:219467188:G:A (self)
12830626, 7097096, 5022570, 6655060, 20549, 5495141, 2421710, 316824, 114213, 2673397, 6651117, 1739349, 7097096, ss330323136, ss489853568, ss491331825, ss712476121, ss783492635, ss977979776, ss1067445606, ss1301722535, ss1579330202, ss1584024088, ss1605834663, ss1648828696, ss1686749511, ss1710997674, ss1752339968, ss1917760305, ss1946067191, ss1958507299, ss2021160405, ss2149222995, ss2733354431, ss2746886496, ss2786551806, ss2985200740, ss2991389020, ss3022071781, ss3344749463, ss3634813288, ss3640520587, ss3644769857, ss3652523011, ss3653968517, ss3659284322, ss3729388532, ss3744487610, ss3745113117, ss3772609603, ss3823858422, ss3825619847, ss3854634137, ss3986216152, ss5336162486, ss5630990534, ss5821617899, ss5847903888, ss5848535861, ss5957248106 NC_000002.11:220331910:G:A NC_000002.12:219467188:G:A (self)
RCV002129573.3, 17008307, 91497341, 349152233, 9629746823, ss2239313712, ss3647278695, ss3706060616, ss4545329354, ss5236978452, ss5252100279, ss5451704624, ss5529482372, ss5934785136 NC_000002.12:219467188:G:A NC_000002.12:219467188:G:A (self)
ss48533805, ss96473470, ss135964352 NT_005403.17:70541328:G:A NC_000002.12:219467188:G:A (self)
ss2733354431 NC_000002.11:220331910:G:T NC_000002.12:219467188:G:T (self)
Help

Publications tab displays PubMed articles citing the variation as a listing of PMID, Title, Author, Year, Journal, ordered by Year, descending.

No publications for rs34861443

Help

The Flanks tab provides retrieving flanking sequences of a SNP on all molecules that have placements.

Genome context:
Select flank length:

Genomic regions, transcripts, and products
Top▲ Help

NCBI Graphical Sequence Viewer display of the genomic region, transcripts and protein products for the reported RefSNP (rs).
Use the zoom option to view the nucleotides around the RefSNP and find other neighboring RefSNPs.
Visit Sequence Viewer for help with navigating inside the display and modifying the selection of displayed data tracks.

Software version is: 2.0.1.post761+d5e8e07